title: Molecular pathological analysis of sarcomas using paraffin-embedded tissue: current limitations and future possibilities.
abstract: Sarcomas of soft tissue and bone are rare neoplasms that can be separated into a large number of different diagnostic entities. Over the years, a number of diagnostic markers have been developed that aid pathologists in reaching the appropriate diagnoses. Many of these markers are sarcoma-specific proteins that can be detected by immunohistochemistry in formalin-fixed, paraffin-embedded (FFPE) sections. In addition, a wide range of molecular studies have been developed that can detect gene mutations, gene amplifications or chromosomal translocations in FFPE material. Until recently, most sequencing-based approaches relied on the availability of fresh frozen tissue. However, with the advent of next-generation sequencing technologies, FFPE material is increasingly being used as a tool to identify novel immunohistochemistry markers, gene mutations, and chromosomal translocations, and to develop diagnostic tests.
authors.affiliation: Department of Pathology, Stanford University Medical Center, Stanford, CA, USA.
authors.forename: Matt
authors.initials: M
authors.lastname: van de Rijn
authors.forename: Xiangqian
authors.initials: X
authors.lastname: Guo
authors.forename: Robert T
authors.initials: RT
authors.lastname: Sweeney
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Beck
authors.forename: Robert B
authors.initials: RB
authors.lastname: West
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis*; D020869:Gene Expression Profiling / Q000379:methods; D006801:Humans; D016612:Paraffin Embedding; D012509:Sarcoma / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor
keywords: molecular testing; next-generation sequencing; sarcoma